Canonical Allele Identifier: CA369247115
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1367686794
MyVariant Identifiers: chr7:g.128850343G>C (hg19) chr7:g.129210502G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129210502G>C , CM000669.2:g.129210502G>C GRCh38
NC_000007.13:g.128850343G>C , CM000669.1:g.128850343G>C GRCh37
NC_000007.12:g.128637579G>C NCBI36
NG_023340.1:g.26631G>C
NG_023340.2:g.26631G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.1606G>C MANE Select ENSP00000249373.3:p.Val536Leu
ENST00000655644.1:c.*1361G>C ENSP00000499377.1:n.*1361G>C
ENST00000249373.7:c.1606G>C ENSP00000249373.3:p.Val536Leu
ENST00000462420.2:c.577G>C
NM_005631.4:c.1606G>C NP_005622.1:p.Val536Leu
XM_011516522.1:c.1216G>C XP_011514824.1:p.Val406Leu
XM_024446891.1:c.1216G>C XP_024302659.1:p.Val406Leu
NM_005631.5:c.1606G>C MANE Select NP_005622.1:p.Val536Leu
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